Background and Objective: Spina Bifida (SB) is a congenital malformation and is a result of the failure of the closure and failure of the neural tube. The causes and mechanisms of genetic involvement involved in the onset of SB are still ambiguous. The present study addresses the genetic variation in SB disease using Next Generation Sequencing (NGS) as a powerful molecular tool for comprehensive genetic disorders studies.
Materials and Methods: Three complete blood samples from people with spina bifida were investigated after DNA extraction using NGS-whole exome sequencing (NGS-WES) method and after comparing the obtained data with the control sample. The results were analyzed using Alignment software (bwa), variant calling (gatk4) and Annotation (wannovar) with the version of the Hg19 genome.
Results: Out of 559087 mutations, there are 1205 mutations of the type INDELs and 557882 mutations associated with SNPs. This number of mutations was compared with control samples and patients with SB. Further studies ultimately identified the genes of PAX3, CUBN, MTHFR and PDGFRA as more effective genes in the disease.
Conclusion: The NGS is a powerful method for the genetic evaluation of patients with SB that can help detect genetic disorders in these patients. Gene mutations found have all occurred in genes that are associated with evolution in the nervous system during the fetal period. These mutations should be confirmed by valid molecular methods.

Background and Objective: Pain an unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. Kaempferol is one of the most important herbal active constituent with antinociceptive effects. The aim of this study was to evaluate the effects of intracerebroventricular injection of kaempferol and its interaction with the transient receptor potential cation channel subfamily V member 1 (TRPV1) on pain in male rats.
Materials and Methods: In this experimental study, sixty male rats (200-250 g) were divided to the following groups: control (saline), Dimethyl sulfoxide (DMSO), morphine, kaempferol at dosages of 0.5, 1, and 1.5 mg/rat, capsaicin, capsazepine, capsaicin plus kaempferol (1.5 mg/rat), capsazepine plus kaempferol (1.5 mg/rat). After cannula implantation in cerebroventricular area, the rats received target components and then evaluated by pain assessment tests (abdominal writhing, tail-flick, and formalin tests). Data were analyzed by one-way ANOVA followed by Tukey’s post-test and P<0.05 was as a significant difference.
Results: The results showed that administration of kaempferol  had significant analgesic effects in comparison to the control/DMSO groups on the tail-flick, abdominal writhing, and formalin tests (P<0.05). Co-administration of capsaicin and kaempferol (1.5 mg/ rat) had significant analgesic effects compared to the control/DMSO groups although, not a synergist. Moreover, co-administration of capsazepine and kaempferol (1.5 mg/ rat) mostly decreased antinociceptive effects of kaempferol.
Conclusion: The kaempferol probably has both acute and inflammatory antinociceptive effects and exert this activity at least in part by activating TRPV1 receptors.